ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.366C>T (p.His122=)

gnomAD frequency: 0.00201  dbSNP: rs140663277
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 15
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000217396 SCV000269242 benign not specified 2014-11-24 criteria provided, single submitter clinical testing His122His in exon 3 of MITF: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 0.3% (30/8600) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs140663277).
Illumina Laboratory Services, Illumina RCV000332499 SCV000445918 benign Tietz syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000382353 SCV000445919 benign Waardenburg syndrome type 2A 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586833 SCV000696087 benign not provided 2016-03-03 criteria provided, single submitter clinical testing
GeneDx RCV000586833 SCV000730723 benign not provided 2019-02-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086789 SCV001001254 benign Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000586833 SCV001144510 benign not provided 2019-02-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000217396 SCV002071070 benign not specified 2021-09-27 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257516 SCV002536415 benign Hereditary cancer-predisposing syndrome 2020-10-09 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000217396 SCV002550858 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000586833 SCV002563776 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing MITF: BP4, BS2
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316182 SCV004015852 benign Melanoma, cutaneous malignant, susceptibility to, 8 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000586833 SCV005264089 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003891791 SCV000303137 benign MITF-related disorder 2020-07-20 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000586833 SCV001971023 likely benign not provided no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.